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Article

Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them.

American journal of medical genetics. Part A - 1 Apr 2021

Chanes Benjamin, Arriaza Marta, Lacassie Yves

Abstract excerpt

At the 43rd annual meeting of the ASHG in 1993, the senior author reported monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaic syndrome in one of them. Her major manifestations included: intrauterine growth restriction (IUGR), failure to thrive (FTT), delayed developmental milestones/intellectual disability (DDM/ID), left hemihypoplasia of her body with leg length discrepancy, left...

Topics

Child, Preschool
Chromosomes, Human, Pair 13
Diseases in Twins
Female
Fetal Growth Retardation
Follow-Up Studies
Humans
Infant, Newborn
Karyotype
Mosaicism
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ring Chromosomes

Turner Syndrome

Twins, Monozygotic

Source

Identifiers

PMID: 33438813
DOI: 10.1002/ajmg.a.62074

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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